Canonical Allele Identifier: CA386291852

Gene: GNPTAB CHPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101749191C>T , CM000674.2:g.101749191C>T	GRCh38
NC_000012.11:g.102142969C>T , CM000674.1:g.102142969C>T	GRCh37
NC_000012.10:g.100667100C>T	NCBI36
NG_021243.1:g.86677G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.3603G>A (GNPTAB) MANE Select	NP_077288.2:p.Trp1201Ter
ENST00000299314.12:c.3603G>A (GNPTAB) MANE Select	ENSP00000299314.7:p.Trp1201Ter
NM_024312.4:c.3603G>A (GNPTAB)	NP_077288.2:p.Trp1201Ter
ENST00000299314.11:c.3603G>A (GNPTAB)	ENSP00000299314.7:p.Trp1201Ter
ENST00000549738.5:c.501G>A (GNPTAB)	ENSP00000450161.1:n.501G>A
XM_011538731.1:c.3522G>A (GNPTAB)	XP_011537033.1:p.Trp1174Ter
XM_011538731.2:c.3522G>A (GNPTAB)	XP_011537033.1:p.Trp1174Ter
XM_017019961.1:c.3387G>A (GNPTAB)	XP_016875450.1:p.Trp1129Ter
XM_017019962.2:c.2376G>A (GNPTAB)	XP_016875451.1:p.Trp792Ter
XR_001748817.1:n.3656C>T (CHPT1)